MYL1:Ensemblv90

myosin light chain 1
OMIM: 160780, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red MYL1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414
Amber MYL1 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414
Amber MYL1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.112 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other NHS GMS Phenotypes Congenital Myopathy 14 (MIM#618414)
Red MYL1 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Amber MYL1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Other Expert Review Amber Phenotypes Congenital Myopathy 14 (MIM#618414)